Canonical Allele Identifier: CA8917012
Community Standard Title: NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23933902G>A , CM000680.2:g.23933902G>A GRCh38
NC_000018.9:g.21513866G>A , CM000680.1:g.21513866G>A GRCh37
NC_000018.8:g.19767864G>A NCBI36
NG_007853.2:g.249305G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8829G>A MANE Select NP_937762.2:p.Arg2943=
ENST00000313654.14:c.8829G>A MANE Select ENSP00000324532.8:p.Arg2943=
NM_000227.6:c.4002G>A MANE Plus Clinical NP_000218.3:p.Arg1334=
ENST00000269217.11:c.4002G>A MANE Plus Clinical ENSP00000269217.5:p.Arg1334=
NM_000227.4:c.4002G>A NP_000218.3:p.Arg1334=
NM_000227.5:c.4002G>A NP_000218.3:p.Arg1334=
NM_001127717.2:c.8661G>A NP_001121189.2:p.Arg2887=
NM_001127717.3:c.8661G>A NP_001121189.2:p.Arg2887=
NM_001127717.4:c.8661G>A NP_001121189.2:p.Arg2887=
NM_001127718.2:c.3834G>A NP_001121190.2:p.Arg1278=
NM_001127718.3:c.3834G>A NP_001121190.2:p.Arg1278=
NM_001127718.4:c.3834G>A NP_001121190.2:p.Arg1278=
NM_198129.2:c.8829G>A NP_937762.2:p.Arg2943=
NM_198129.3:c.8829G>A NP_937762.2:p.Arg2943=
ENST00000269217.10:c.4002G>A ENSP00000269217.5:p.Arg1334=
ENST00000313654.13:c.8829G>A ENSP00000324532.8:p.Arg2943=
ENST00000399516.7:c.8661G>A ENSP00000382432.2:p.Arg2887=
ENST00000587184.5:c.3834G>A ENSP00000466557.1:p.Arg1278=
ENST00000588770.5:n.3407G>A
ENST00000649721.1:c.5424G>A ENSP00000497885.1:p.Arg1808=
XM_011525978.1:c.8856G>A XP_011524280.1:p.Arg2952=
XM_011525978.2:c.8856G>A XP_011524280.1:p.Arg2952=
XM_011525979.1:c.8847G>A XP_011524281.1:p.Arg2949=
XM_011525979.2:c.8847G>A XP_011524281.1:p.Arg2949=
XM_011525980.1:c.8838G>A XP_011524282.1:p.Arg2946=
XM_011525980.2:c.8838G>A XP_011524282.1:p.Arg2946=
XM_011525981.1:c.8724G>A XP_011524283.1:p.Arg2908=
XM_011525981.2:c.8724G>A XP_011524283.1:p.Arg2908=
XM_011525982.1:c.8559G>A XP_011524284.1:p.Arg2853=
XM_011525982.2:c.8559G>A XP_011524284.1:p.Arg2853=
XM_017025743.1:c.6708G>A XP_016881232.1:p.Arg2236=
XM_017025744.1:c.4398G>A XP_016881233.1:p.Arg1466=
XR_001753199.1:n.9097G>A